A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8914n54



Internal ID20142338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2261412..2262694hg38UCSC Ensembl
chr4:2263139..2264421hg19UCSC Ensembl
chr4:2232937..2234219hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593392, nsv593390
Samples
Known GenesMXD4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8914n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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